Pbrm1 MGI Mouse Gene Detail - MGI:1923998

Symbol

Pbrm1
Name

polybromo 1
Synonyms

2310032M22Rik, 2610016F04Rik, BAF180, Pb1

Feature Type

protein coding gene
IDs

MGI:1923998
NCBI Gene: 66923
Alliance

gene page
Transcription Start Sites

9 TSS

Sequence Map

Chr14:30741095-30843549 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 14, 19.09 cM, cytoband B
Mapping Data

4 experiments

SNPs within 2kb

1834 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1923998	protein coding gene	Chr14:30741095-30843549 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0021117	protein coding gene	Chr14:24185729-24292321 (+)
A/J	MGP_AJ_G0021065	protein coding gene	Chr14:23273292-23375536 (+)
AKR/J	MGP_AKRJ_G0021042	protein coding gene	Chr14:24396536-24499458 (+)
BALB/cJ	MGP_BALBcJ_G0021069	protein coding gene	Chr14:23380468-23496557 (+)
C3H/HeJ	MGP_C3HHeJ_G0020852	protein coding gene	Chr14:24254955-24363307 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0021501	protein coding gene	Chr14:25146289-25258601 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019064	protein coding gene	Chr14:23332406-23437500 (+)
CAST/EiJ	MGP_CASTEiJ_G0020377	protein coding gene	Chr14:24024672-24131361 (+)
CBA/J	MGP_CBAJ_G0020819	protein coding gene	Chr14:26116434-26234530 (+)
DBA/2J	MGP_DBA2J_G0020941	protein coding gene	Chr14:23298898-23405081 (+)
FVB/NJ	MGP_FVBNJ_G0020925	protein coding gene	Chr14:23258714-23367233 (+)
LP/J	MGP_LPJ_G0021010	protein coding gene	Chr14:24508719-24617536 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020951	protein coding gene	Chr14:25384160-25497298 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021534	protein coding gene	Chr14:24152897-24260188 (+)
PWK/PhJ	MGP_PWKPhJ_G0020125	protein coding gene	Chr14:22753267-22859457 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0019949	protein coding gene	Chr14:23742756-23853377 (+)
WSB/EiJ	MGP_WSBEiJ_G0020432	protein coding gene	Chr14:24212802-24318777 (+)

Human Ortholog

PBRM1, polybromo 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PBRM1, polybromo 1
Synonyms

BAF180, PB1, RCC, SMARCH1
Links

HGNC:30064

NCBI Gene ID: 55193

neXtProt AC: NX_Q86U86

UniProt: Q86U86
Chr Location

3p21.1; chr3:52545352-52685917 (-) GRCh38

MGI Vertebrate Homology

Pbrm1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: PBRM1
Gene Tree

Pbrm1

Diseases

4 with human PBRM1 associations

				Human Disease	Mouse Models
				extrahepatic bile duct adenocarcinoma IDs extrahepatic bile duct adenocarcinoma DOID:3495 NCI:C7975 UMLS_CUI:C0279659
				lung non-small cell carcinoma IDs lung non-small cell carcinoma DOID:3908 EFO:0003060 KEGG:05223 MESH:D002289 NCI:C2926 UMLS_CUI:C0007131
				lung small cell carcinoma IDs lung small cell carcinoma DOID:5409 KEGG:05222 MESH:D055752 NCI:C4917 OMIM:182280 UMLS_CUI:C0149925
				renal cell carcinoma IDs renal cell carcinoma DOID:4450 EFO:0000681 MESH:D002292 NCI:C9385 OMIM:300854 ORDO:217071 UMLS_CUI:C0007134

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

19 phenotypes from 3 alleles in 3 genetic backgrounds
27 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

38
Chemically induced (ENU)

1
Endonuclease-mediated

3
Gene trapped

29
Targeted

5
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

90 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice display embryonic lethality with hypoplastic cardiac ventricular chambers and malformation of the placenta.

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All GO Annotations

41
GO References

24

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

779
Tissues

58
cDNA Data

226
Literature Summary

26

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pbrm1

ZFIN pbrm1

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All Sequences

112
RefSeq

12
UniProt

15
CCDS

CCDS36851.1

Ensembl

ENSMUSG00000042323 (Evidence)
NCBI Gene

66923

			Length	Strain/Species	Flank
genomic	66923	NCBI Gene Model \| MGI Sequence Detail	102455	C57BL/6J	± kb
transcript	NM_001359854	RefSeq \| MGI Sequence Detail	8155	C57BL/6
polypeptide	Q8BSQ9	UniProt \| EBI \| MGI Sequence Detail	1634	Not Applicable

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UniProt

15 Sequences
Protein Ontology

PR:000012325 protein polybromo-1

(term hierarchy)
PDB

2YQD
InterPro Domains

IPR001025 Bromo adjacent homology (BAH) domain

IPR043151 Bromo adjacent homology (BAH) domain superfamily

IPR001487 Bromodomain

IPR018359 Bromodomain, conserved site

IPR036427 Bromodomain-like superfamily

IPR009071 High mobility group box domain

IPR036910 High mobility group box domain superfamily

IPR037968 Protein polybromo-1, Bromodomain 5

IPR037382 Remodelling complex subunit Rsc/polybromo
GlyGen

Q8BSQ9 1 site, 1 N-linked glycan (1 site)

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All nucleic 231

cDNA 226

Primer pair 5

Microarray probesets 10

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MGI:1914173, MGI:2145667

Summaries

All 96

Developmental Gene Expression 26

Gene Ontology 24

Phenotypes 27
Earliest

J:35263 Wang W, et al., Diversity and specialization of mammalian SWI/SNF complexes. Genes Dev. 1996 Sep 1;10(17):2117-30
Latest

J:345636 Xin Q, et al., Stromal Pbrm1 mediates chromatin remodeling necessary for embryo implantation in the mouse uterus. J Clin Invest. 2024 Mar 1;134(5)

TSS for Pbrm1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr124906	Chr14:30741082-30741114 (+)	3 bp
Tssr124907	Chr14:30741116-30741135 (+)	31 bp
Tssr124908	Chr14:30741140-30741171 (+)	61 bp
Tssr124909	Chr14:30741396-30741463 (+)	335 bp
Tssr124910	Chr14:30741657-30741661 (+)	564 bp
Tssr124911	Chr14:30752597-30752602 (+)	11,505 bp
Tssr124912	Chr14:30794116-30794120 (+)	53,023 bp
Tssr124913	Chr14:30815457-30815461 (+)	74,364 bp
Tssr124914	Chr14:30840741-30840745 (+)	99,648 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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